Achondroplasia Flashcards
Which of the following is not a characteristic of achondroplasia?
a. Depressed nasal bridge
b. Trident hands
c. Rhizomelic shortening
d. Prominent forehead
e. Thoracolumbar lordosis
e. thoracolumbar lordosis
Which of the following statements regarding the inheritance of achondroplasia is accurate?
a. For a child to be affected with achondroplasia, both parents must be affected
b. When one parent has achondroplasia and the other has normal stature, there is a 25% chance that a child will have achondroplasia
c. When both parents have achondroplasia, there is a 50% chance a child will have achondroplasia
d. If both parents have achondroplasia, there is a 50% chance a child will have normal stature
e. None of the above
c. When both parents have achondroplasia, there is a 50% chance a child will have achondroplasia
Which of the following laboratory tests and diagnostic studies is not likely to be used in the assessment of a patient with achondroplasia?
a. CBC with differential
b. Genetic testing for mutation in the FGFR3 gene
c. MRI scan to assess craniocervical junction
d. Prenatal ultrasound to assess foreshortening of the limbs and biparietal diameter
a. CBC with differential
In addition to disproportionately short stature, achondroplasia is characterized by a normal-sized trunk and short limbs, especially in the proximal segment, and a large head with frontal bossing and midface hypoplasia. Additional manifestations include
a. joint stiffness and long, narrow hands
b. failure to thrive and mild to moderate hypertonia
c. hypertonia and polydactyly
d. short and broad hands, mild or moderate hypotonia, and kyphosis
e. all of the above
d. short and broad hands, mild or moderate hypotonia, and kyphosis
Neurologic and skeletal complications are common in patients with achondroplasia as a consequence of abnormal linear bone growth. Which of the following is not a common complication of achondroplasia?
a. Spinal stenosis
b. Carpal tunnel syndrome
c. Airway obstruction
d. Thoracolumbar kyphosis
e. Foramen magnum stenosis
b. carpal tunnel syndrome
Which of the following accurately describes findings on prenatal ultrasound for a fetus with achondroplasia?
a. Foreshortening of the limbs, increased biparietal diameter, and low nasal bridge
b. Foreshortening of the limbs, decreased biparietal diameter, and low nasal bridge
c. Foreshortening of the limbs, increased biparietal diameter, and high nasal bridge
d. Foreshortening of the limbs, decreased parietal diameter, and high nasal bridge
e. None of the above
a. Foreshortening of the limbs, increase biparietal diameter, and low nasal bridge
The nurse should be aware that treatment of the patient with achondroplasia will likely include
a. surgery to correct congenital heart defects
b. surgery for spinal stenosis
c. dietary management to prevent obesity
d. supportive sitting modifications and/or a back brace for persistent kyphosis
e. a), b), and c)
f. b), c), and d)
f. b), c), and d)
Education for the patient with achondroplasia and family members should include
a. providing information on home adaptations that increase patient independence
b. encouraging asking the treating clinician about genetic counseling
c. providing information regarding the need for age-appropriate interaction with other children
d. encouraging joining a support group for contact with others who face similar challenges
e. all of the above
e. all of the above
The nurse is providing care for a 3-week-old baby girl with achondroplasia. While educating the parents about achondroplasia, the nurse should explain that
a. the baby’s head growth will need to be closely monitored during the first few years of life
b. the baby will be treated prophylactically for ear infection
c. the baby will have a shortened lifespan
d. the baby will have no physical limitations other than short stature
e. a) and c)
f. a) and b)
a. the baby’s head growth will need to be closely monitored during the first few years of life
The nurse is talking with the parents of a 4-year-old child with achondroplasia. The parents tell the nurse that they are planning to have another child. The nurse should encourage them to
a. adopt a child who does not have achondroplasia
b. hire a surrogate to avoid having another child with achondroplasia
c. consider the significant financial burden of having another child with achondroplasia
d. seek genetic counseling to understand the possibility of having another child with achondroplasia
d. seek genetic counseling to understand the possibility of having another child with achondroplasia
The nurse is providing care for a patient with achondroplasia who will undergo surgery for foramen magnum stenosis. The nurse should
a. provide presurgical patient education
b. verify completion of facility informed consent documents
c. provide emotional support to the patient and the patient’s family
d. sign the patient’s informed consent documents
e. a), b), and c)
f. all of the above
e. a), b), and c)
The nurse is caring for a 4-year-old child with achondroplasia who is having difficulty walking. The nurse should
a. request a referral to a pediatric orthopedist
b. request referral to a mental health clinician
c. schedule several sessions with physical therapy to help the child improve his/her gait
d. encourage the child’s parents to purchase a wheelchair
e. none of the above
a. request a referral to a pediatric orthopedist
The nurse is providing care for a patient with achondroplasia who has recurrent otitis media. The nurse should not be surprised when the treating clinician recommends
a. placement of an orogastric tube
b. placement of tympanostomy tubes
c. long-term antibiotic therapy
d. hearing training
b. placement of tympanostomy tubes
When asked by a patient who has achondroplasia how common the disorder is, the nurse should reply that achondroplasia affects ~_____________ persons worldwide.
a. 100,000
b. 200,000
c. 150,000
d. 1,000,000
c. 150,000
If both parents have achondroplasia, there is a 25% chance that a child will have homozygous achondroplasia, which is usually fatal in utero or shortly after birth.
True
False
True
